Mutagenetix > Incidental Mutation

Incidental Mutation 'R8240:Gstm6'

640899

Institutional Source

Beutler Lab

Gene Symbol

Gstm6

Ensembl Gene

ENSMUSG00000068762

Gene Name

glutathione S-transferase, mu 6

Synonyms

MMRRC Submission

067671-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8240 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107846163-107851065 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107849453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 119 (D119V)

Ref Sequence

ENSEMBL: ENSMUSP00000102295 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106681] [ENSMUST00000106683] [ENSMUST00000106684] [ENSMUST00000106685] [ENSMUST00000155926]

AlphaFold

O35660

Predicted Effect

probably damaging
Transcript: ENSMUST00000106681
AA Change: D85V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102292
Gene: ENSMUSG00000068762
AA Change: D85V

Domain	Start	End	E-Value	Type
Pfam:GST_N	1	48	9.4e-12	PFAM
Pfam:GST_C_3	7	154	7.6e-11	PFAM
Pfam:GST_C	70	154	3.6e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106683

SMART Domains

Protein: ENSMUSP00000102294
Gene: ENSMUSG00000068762

Domain	Start	End	E-Value	Type
Pfam:GST_C_3	4	95	6.3e-11	PFAM
Pfam:GST_C	6	97	2.1e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106684
AA Change: D119V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102295
Gene: ENSMUSG00000068762
AA Change: D119V

Domain	Start	End	E-Value	Type
Pfam:GST_N	3	82	2e-22	PFAM
Pfam:GST_C_3	41	204	4.1e-12	PFAM
Pfam:GST_C	104	205	5.9e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106685
AA Change: D119V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102296
Gene: ENSMUSG00000068762
AA Change: D119V

Domain	Start	End	E-Value	Type
Pfam:GST_N	3	82	7.9e-23	PFAM
Pfam:GST_C	104	192	8.4e-20	PFAM
Pfam:GST_C_3	113	190	6.8e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155926

SMART Domains

Protein: ENSMUSP00000139500
Gene: ENSMUSG00000068762

Domain	Start	End	E-Value	Type
Pfam:GST_N	1	48	1.9e-10	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610524H06Rik	A	T	5: 114,961,472 (GRCm39)	V12E	probably benign	Het
Ahnak2	A	G	12: 112,741,082 (GRCm39)	F997L	probably benign	Het
Baiap3	A	T	17: 25,464,288 (GRCm39)		probably null	Het
Cct6b	A	G	11: 82,614,650 (GRCm39)	I446T	probably damaging	Het
Cfap206	A	G	4: 34,728,902 (GRCm39)	M1T	probably null	Het
Clca4a	T	C	3: 144,676,488 (GRCm39)	Y64C	probably damaging	Het
Col24a1	A	T	3: 145,213,457 (GRCm39)	Q1354L	probably benign	Het
Coro7	A	G	16: 4,486,660 (GRCm39)	V171A	probably damaging	Het
Cyp3a44	G	A	5: 145,725,257 (GRCm39)	L315F	probably damaging	Het
Frem1	T	A	4: 82,874,485 (GRCm39)	D1379V	probably benign	Het
Hcn1	ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	13: 118,112,269 (GRCm39)		probably benign	Het
Hibch	T	A	1: 52,940,494 (GRCm39)		probably null	Het
Il1rap	G	A	16: 26,520,001 (GRCm39)	E356K	probably benign	Het
Itm2c	G	T	1: 85,822,457 (GRCm39)	G25C	probably benign	Het
Klhl8	C	T	5: 104,015,392 (GRCm39)	V511I	probably damaging	Het
Mcee	A	G	7: 64,061,665 (GRCm39)	H156R	possibly damaging	Het
Myh3	C	A	11: 66,983,196 (GRCm39)	Q908K	probably benign	Het
Ncoa7	A	G	10: 30,567,725 (GRCm39)	S318P	probably benign	Het
Nhsl1	A	G	10: 18,402,487 (GRCm39)	N1208D	probably benign	Het
Or10p21	T	A	10: 128,847,766 (GRCm39)	I204K	possibly damaging	Het
Or4a15	C	T	2: 89,192,896 (GRCm39)	M292I	probably benign	Het
P2rx7	C	T	5: 122,793,096 (GRCm39)	P140S	probably damaging	Het
Plcd4	C	G	1: 74,593,660 (GRCm39)	H262D	probably benign	Het
Prps1l1	T	C	12: 35,035,140 (GRCm39)	V85A	probably damaging	Het
Prss27	G	A	17: 24,263,919 (GRCm39)	V202I	probably benign	Het
Rtn4r	A	T	16: 17,969,258 (GRCm39)	M229L	probably benign	Het
Slc43a1	A	G	2: 84,690,167 (GRCm39)	H491R	possibly damaging	Het
Slc44a2	A	G	9: 21,253,481 (GRCm39)	D83G	probably benign	Het
Spag6l	A	G	16: 16,580,889 (GRCm39)	V486A	probably damaging	Het
Sspo	A	T	6: 48,460,436 (GRCm39)	Q3408L	possibly damaging	Het
Tasor2	T	C	13: 3,624,388 (GRCm39)	D1854G	probably benign	Het
Tjp3	G	A	10: 81,109,641 (GRCm39)	T854I	probably benign	Het
Tmsb10b	A	C	7: 24,561,805 (GRCm39)	I35L	probably benign	Het
Trim30a	C	T	7: 104,070,663 (GRCm39)	G250D	probably benign	Het
Ttll1	G	T	15: 83,376,783 (GRCm39)	D313E	probably damaging	Het
Zfp160	A	T	17: 21,246,350 (GRCm39)	N300I	probably damaging	Het
Zfp458	C	T	13: 67,406,190 (GRCm39)	C83Y	probably damaging	Het
Zmym4	A	T	4: 126,798,188 (GRCm39)		probably null	Het

Other mutations in Gstm6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01321:Gstm6	APN	3	107,848,379 (GRCm39)	missense	probably benign	0.15
IGL02100:Gstm6	APN	3	107,849,653 (GRCm39)	missense	probably benign	0.20
IGL02685:Gstm6	APN	3	107,848,507 (GRCm39)	missense	probably benign	0.25
R1221:Gstm6	UTSW	3	107,848,418 (GRCm39)	missense	probably damaging	1.00
R2428:Gstm6	UTSW	3	107,850,922 (GRCm39)	missense	possibly damaging	0.82
R2763:Gstm6	UTSW	3	107,848,358 (GRCm39)	missense	possibly damaging	0.65
R6178:Gstm6	UTSW	3	107,848,397 (GRCm39)	missense	probably benign	0.01
R6545:Gstm6	UTSW	3	107,849,681 (GRCm39)	missense	probably damaging	1.00
R6730:Gstm6	UTSW	3	107,850,041 (GRCm39)	nonsense	probably null
R9354:Gstm6	UTSW	3	107,850,018 (GRCm39)	missense	probably damaging	1.00
X0018:Gstm6	UTSW	3	107,850,063 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTCTTGGAAACGGTATGTTGTAC -3'
(R):5'- ATGGGTCACACAAGGTCACC -3'

Sequencing Primer
(F):5'- TACTTGTTAACAAAATGGGGGTG -3'
(R):5'- AGAGCAATGCCATCCTGCG -3'

Posted On

2020-07-28